ClinVar Miner

List of variants reported as likely benign for Dyskeratosis congenita by Invitae

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Total variants: 69
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HGVS dbSNP
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.85-4G>A rs782787521
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494
NM_017838.3(NHP2):c.143A>G (p.Tyr48Cys) rs200150979
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.72C>T (p.Tyr24=) rs202221169
NM_022762.5(RMND5B):c.*1774G>A rs375285426
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2476-7C>T rs189539795
NM_025099.6(CTC1):c.24C>T (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2670-7C>T rs750034989
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301
NM_025099.6(CTC1):c.3222-4A>G rs562479062
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616
NM_025099.6(CTC1):c.34-9T>G rs201195157
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3515-10C>T rs200225342
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951

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